Linked Data
dbSNP Id:
rs901162935
gnomAD v3:
17-14076929-C-G
gnomAD v4:
17-14076929-C-G
COSMIC:
COSM5733136
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14076929C>G , CM000679.2:g.14076929C>G | GRCh38 |
| NC_000017.10:g.13980246C>G , CM000679.1:g.13980246C>G | GRCh37 |
| NC_000017.9:g.13920971C>G | NCBI36 |
| NG_008034.1:g.12528C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.372C>G MANE Select | ENSP00000261643.3:p.Asp124Glu | |
| ENST00000664217.1:c.372C>G | ENSP00000499396.1:p.Asp124Glu | |
| ENST00000670279.1:c.372C>G | ENSP00000499450.1:p.Asp124Glu | |
| ENST00000261643.7:c.372C>G | ENSP00000261643.3:p.Asp124Glu | |
| ENST00000429152.6:c.372C>G | ENSP00000397750.2:p.Asp124Glu | |
| ENST00000580561.1:c.177+2473C>G | ENSP00000462190.1:n.177+2473C>G | |
| ENST00000581931.5:c.372C>G | ENSP00000462512.1:p.Asp124Glu | |
| NM_001303.3:c.372C>G | NP_001294.2:p.Asp124Glu | |
| XM_005256458.1:c.372C>G | XP_005256515.1:p.Asp124Glu | |
| XM_011523657.1:c.372C>G | XP_011521959.1:p.Asp124Glu | |
| XM_011523658.1:c.-80C>G | XP_011521960.1:n.-80C>G | |
| XR_933974.1:n.475C>G | ||
| XR_933975.1:n.475C>G | ||
| NM_001303.4:c.372C>G MANE Select | NP_001294.2:p.Asp124Glu |